MeSH Browser

MeSH Supplementary: succinic semialdehyde dehydrogenase deficiency
Unique ID: C535803
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535803
Entry Term(s): 4-Hydroxybutyricaciduria; 4-hydroxybutyric aciduria; Gamma-Hydroxybutyric Acidemia; Gamma-Hydroxybutyric Aciduria; SSADH Deficiency
Registry Number: 0
Heading Mapped to: *Amino Acid Metabolism, Inborn Errors; *Developmental Disabilities; Succinate-Semialdehyde Dehydrogenase / *deficiency
Frequency: 74
Note: A rare hereditary autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GAMMA-AMINOBUTYRIC ACID (GABA). It is characterized by DEVELOPMENTAL DISABILITIES; INTELLECTUAL DISABILITIES; HYPOTONIA; ATAXIA; SEIZURES; AGGRESSION, hyperkinetic behavior, and sleep disturbances. Mutations in the ALDH5A1 gene have been identified. OMIM: 271980
Date of Entry: 2010/08/25
Revision Date: 2015/09/27

succinic semialdehyde dehydrogenase deficiency MeSH Supplementary Concept Data 2023